Bartter syndrome type 2 (hyperprostanglandin E syndrome 2, KCNJ1 linked)

Pathology

• impaired salt reabsorption in the thick ascending loop of Henle
• pronounced salt wasting
• hypokalemic metabolic alkalosis
• varying degrees of hypercalciuria
• life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios & premature delivery
• marked hypercalciuria leading to nephrocalcinosis & osteopenia

Genetics

• autosomal recessive
• associatated with defects in KCNJ1 (inwardly-rectifying K+ channel J1)

More general terms

• Bartter syndrome

Database

• OMIM: https://mirror.omim.org/entry/241200
• OMIM: https://mirror.omim.org/entry/600359